Canonical Allele Identifier: CA349488525

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179456618A>C (hg19) ; chr2:g.178591891A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591891A>C , CM000664.2:g.178591891A>C	GRCh38
NC_000002.11:g.179456618A>C , CM000664.1:g.179456618A>C	GRCh37
NC_000002.10:g.179164864A>C	NCBI36
NG_011618.3:g.243912T>G , LRG_391:g.243912T>G
NG_051363.1:g.74065A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.52224T>G (TTN)	ENSP00000343764.6:p.His17408Gln
ENST00000342175.11:c.33309T>G (TTN)	ENSP00000340554.6:p.His11103Gln
ENST00000359218.10:c.33108T>G (TTN)	ENSP00000352154.5:p.His11036Gln
ENST00000342175.10:c.33309T>G (TTN)	ENSP00000340554.6:p.His11103Gln
ENST00000342992.10:c.52224T>G (TTN)	ENSP00000343764.6:p.His17408Gln
ENST00000359218.9:c.33108T>G (TTN)	ENSP00000352154.5:p.His11036Gln
ENST00000460472.6:c.32733T>G (TTN)	ENSP00000434586.1:p.His10911Gln
ENST00000589042.5:c.59928T>G (TTN) MANE Select	ENSP00000467141.1:p.His19976Gln
ENST00000591111.5:c.55005T>G (TTN)	ENSP00000465570.1:p.His18335Gln
ENST00000615779.4:c.55005T>G (TTN)	ENSP00000483597.1:p.His18335Gln
NM_001256850.1:c.55005T>G (TTN)	NP_001243779.1:p.His18335Gln
NM_001267550.2:c.59928T>G (TTN) MANE Select	NP_001254479.2:p.His19976Gln
NM_003319.4:c.32733T>G (TTN)	NP_003310.4:p.His10911Gln
NM_133378.4:c.52224T>G (TTN)	NP_596869.4:p.His17408Gln
NM_133432.3:c.33108T>G (TTN)	NP_597676.3:p.His11036Gln
NM_133437.4:c.33309T>G (TTN)	NP_597681.4:p.His11103Gln
NR_038271.1:n.597-5705A>C (TTN-AS1)
NR_038272.1:n.3364+577A>C (TTN-AS1)
XM_011511729.1:c.59025T>G (TTN)	XP_011510031.1:p.His19675Gln
XM_011511730.1:c.32919T>G (TTN)	XP_011510032.1:p.His10973Gln
XM_011511731.1:c.32778T>G (TTN)	XP_011510033.1:p.His10926Gln
XM_017004819.1:c.58821T>G (TTN)	XP_016860308.1:p.His19607Gln
XM_017004820.1:c.54219T>G (TTN)	XP_016860309.1:p.His18073Gln
XM_017004821.1:c.54216T>G (TTN)	XP_016860310.1:p.His18072Gln
XM_017004822.1:c.51258T>G (TTN)	XP_016860311.1:p.His17086Gln
XM_017004823.1:c.32874T>G (TTN)	XP_016860312.1:p.His10958Gln
XM_024453094.1:c.54369T>G (TTN)	XP_024308862.1:p.His18123Gln
XM_024453095.1:c.54366T>G (TTN)	XP_024308863.1:p.His18122Gln
XM_024453096.1:c.53799T>G (TTN)	XP_024308864.1:p.His17933Gln
XM_024453097.1:c.51141T>G (TTN)	XP_024308865.1:p.His17047Gln
XM_024453098.1:c.51060T>G (TTN)	XP_024308866.1:p.His17020Gln
XM_024453099.1:c.32823T>G (TTN)	XP_024308867.1:p.His10941Gln
XM_024453100.1:c.22677T>G (TTN)	XP_024308868.1:p.His7559Gln